Results for the protein: Q13698

Results for the Protein: Q13698

209572767

779

CACNA1S

NCBI, UniProt

CAC1S_HUMAN RecName: Full=Voltage-dependent L-type calcium channel subunit alpha-1S; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle; AltName: Full=Voltage-gated calcium channel subunit alpha Cav1.1

Known Diseases associated with this Protein:
  HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
  MALIGNANT HYPERTHERMIA 5 (MHS5)
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
  PERIODIC PARALYSIS HYPOKALEMIC 1 (HOKPP1)

12

6

6

4

8

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